Mutagenetix > Incidental Mutation

Incidental Mutation 'R2115:Or4c122'

232997

Institutional Source

Beutler Lab

Gene Symbol

Or4c122

Ensembl Gene

ENSMUSG00000099486

Gene Name

olfactory receptor family 4 subfamily C member 122

Synonyms

GA_x6K02T2Q125-50696209-50695274, Olfr1228, MOR233-1

MMRRC Submission

040119-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R2115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89079065-89080036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89079874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 55 (I55V)

Ref Sequence

ENSEMBL: ENSMUSP00000139920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099789] [ENSMUST00000190757] [ENSMUST00000215447] [ENSMUST00000216392]

AlphaFold

Q8VGM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000099789
AA Change: I55V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097377
Gene: ENSMUSG00000101480
AA Change: I55V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	41	315	4.2e-48	PFAM
Pfam:7tm_1	51	298	4.1e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000190757
AA Change: I55V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139920
Gene: ENSMUSG00000099486
AA Change: I55V

Domain	Start	End	E-Value	Type
Pfam:7tm_1	51	298	2.6e-27	PFAM
Pfam:7tm_4	150	292	2.9e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215447
AA Change: I43V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216392
AA Change: I43V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.2475

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (95/97)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,900,562 (GRCm39)	T1195A	probably benign	Het
Abca12	A	T	1: 71,283,930 (GRCm39)	N2547K	probably benign	Het
Abca16	A	C	7: 120,139,868 (GRCm39)	E1510A	probably damaging	Het
Adam5	A	G	8: 25,234,161 (GRCm39)		probably benign	Het
Akna	G	A	4: 63,313,397 (GRCm39)	P242L	probably benign	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,767,361 (GRCm39)	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Ark2n	T	C	18: 77,762,168 (GRCm39)	D48G	possibly damaging	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Atxn1l	C	T	8: 110,459,240 (GRCm39)	A341T	probably benign	Het
Birc7	C	A	2: 180,572,642 (GRCm39)	Q138K	possibly damaging	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Chad	C	T	11: 94,459,052 (GRCm39)	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534 (GRCm39)		probably null	Het
Dnah17	C	T	11: 118,010,628 (GRCm39)	C230Y	probably benign	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Dusp11	T	C	6: 85,935,651 (GRCm39)	D74G	probably damaging	Het
Duxf4	T	C	10: 58,072,073 (GRCm39)	D47G	possibly damaging	Het
Eif3m	T	C	2: 104,837,141 (GRCm39)	T61A	probably damaging	Het
Esyt1	T	A	10: 128,357,973 (GRCm39)	D212V	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
F13a1	A	T	13: 37,172,831 (GRCm39)	I183N	probably damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,503,423 (GRCm39)	N68K	probably damaging	Het
Fut7	C	A	2: 25,315,343 (GRCm39)	Y153*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm1527	T	C	3: 28,972,098 (GRCm39)	L405P	probably benign	Het
Heatr6	T	A	11: 83,648,281 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,835,576 (GRCm39)		probably benign	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kat7	C	T	11: 95,194,120 (GRCm39)	R60Q	probably benign	Het
Katnal2	T	C	18: 77,067,787 (GRCm39)	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,480,701 (GRCm39)	L755F	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
Kifc3	A	G	8: 95,835,341 (GRCm39)	Y178H	probably damaging	Het
Krit1	A	T	5: 3,872,108 (GRCm39)	R378*	probably null	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lama3	C	A	18: 12,535,906 (GRCm39)	T204N	possibly damaging	Het
Lama5	A	G	2: 179,828,678 (GRCm39)	C2090R	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mipep	T	C	14: 61,024,829 (GRCm39)	V90A	probably damaging	Het
Myo3a	A	T	2: 22,250,342 (GRCm39)	I70F	probably damaging	Het
Napa	A	G	7: 15,848,134 (GRCm39)	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,451,489 (GRCm39)	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,409,288 (GRCm39)	V13E	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Nptx2	G	C	5: 144,492,216 (GRCm39)	G331A	probably damaging	Het
Or2q1	A	G	6: 42,794,431 (GRCm39)	T9A	possibly damaging	Het
Or5h17	T	C	16: 58,820,783 (GRCm39)	L245P	possibly damaging	Het
Or7g34	T	C	9: 19,478,618 (GRCm39)	T18A	probably benign	Het
Parp14	T	C	16: 35,678,904 (GRCm39)	T355A	probably benign	Het
Pcdh12	T	C	18: 38,417,039 (GRCm39)	T29A	probably damaging	Het
Pced1b	T	A	15: 97,282,505 (GRCm39)	C181*	probably null	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,537,737 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,597,972 (GRCm39)	K178N	probably damaging	Het
Prkag1	T	C	15: 98,712,433 (GRCm39)	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,337,982 (GRCm39)	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rassf9	A	G	10: 102,380,806 (GRCm39)	T63A	probably benign	Het
Rdh11	G	T	12: 79,222,996 (GRCm39)	Q292K	probably benign	Het
Rere	C	A	4: 150,697,018 (GRCm39)		probably benign	Het
Rgs18	G	T	1: 144,629,629 (GRCm39)	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,318,839 (GRCm39)	N1099S	probably benign	Het
Ros1	T	C	10: 52,004,651 (GRCm39)	I969V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rrp12	C	T	19: 41,879,533 (GRCm39)	V174I	probably benign	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Sbk3	A	G	7: 4,970,415 (GRCm39)	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Sec23ip	G	A	7: 128,364,185 (GRCm39)	V488I	probably benign	Het
Serpine3	T	C	14: 62,910,459 (GRCm39)	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,331,896 (GRCm39)	T512A	possibly damaging	Het
Slc49a4	T	C	16: 35,518,309 (GRCm39)	D468G	probably benign	Het
Smpd4	T	C	16: 17,444,729 (GRCm39)	Y118H	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,241,534 (GRCm39)	V120I	probably benign	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Utp20	T	C	10: 88,621,865 (GRCm39)	D1136G	probably benign	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Yars1	T	G	4: 129,101,716 (GRCm39)		probably null	Het
Zfp472	A	G	17: 33,196,988 (GRCm39)	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het

Other mutations in Or4c122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01804:Or4c122	APN	2	89,079,566 (GRCm39)	missense	probably benign	0.00
IGL02588:Or4c122	APN	2	89,080,042 (GRCm39)	splice site	probably benign
R0384:Or4c122	UTSW	2	89,079,414 (GRCm39)	missense	possibly damaging	0.82
R0600:Or4c122	UTSW	2	89,079,742 (GRCm39)	nonsense	probably null
R0613:Or4c122	UTSW	2	89,079,469 (GRCm39)	missense	probably damaging	1.00
R1564:Or4c122	UTSW	2	89,080,016 (GRCm39)	missense	probably benign	0.00
R2313:Or4c122	UTSW	2	89,079,285 (GRCm39)	missense	probably damaging	1.00
R3083:Or4c122	UTSW	2	89,079,345 (GRCm39)	missense	probably damaging	0.96
R3790:Or4c122	UTSW	2	89,079,337 (GRCm39)	missense	probably benign	0.02
R3948:Or4c122	UTSW	2	89,079,336 (GRCm39)	missense	possibly damaging	0.95
R4373:Or4c122	UTSW	2	89,079,589 (GRCm39)	missense	possibly damaging	0.90
R4376:Or4c122	UTSW	2	89,079,589 (GRCm39)	missense	possibly damaging	0.90
R4825:Or4c122	UTSW	2	89,079,034 (GRCm39)	splice site	probably null
R5022:Or4c122	UTSW	2	89,079,761 (GRCm39)	missense	probably benign	0.00
R5141:Or4c122	UTSW	2	89,079,473 (GRCm39)	nonsense	probably null
R5313:Or4c122	UTSW	2	89,079,721 (GRCm39)	missense	probably benign	0.05
R6010:Or4c122	UTSW	2	89,079,087 (GRCm39)	missense	probably benign	0.00
R7354:Or4c122	UTSW	2	89,079,031 (GRCm39)	splice site	probably null
R7548:Or4c122	UTSW	2	89,079,430 (GRCm39)	missense	probably benign	0.09
R8014:Or4c122	UTSW	2	89,079,343 (GRCm39)	missense	probably damaging	0.98
R8098:Or4c122	UTSW	2	89,079,652 (GRCm39)	missense	possibly damaging	0.95
R8280:Or4c122	UTSW	2	89,079,234 (GRCm39)	missense	probably damaging	0.98
R8554:Or4c122	UTSW	2	89,079,595 (GRCm39)	missense	possibly damaging	0.48
R8678:Or4c122	UTSW	2	89,079,351 (GRCm39)	missense	probably damaging	1.00
R8725:Or4c122	UTSW	2	89,079,658 (GRCm39)	missense	probably benign	0.00
R9039:Or4c122	UTSW	2	89,079,545 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTGTCATGCAACATTCAAAGG -3'
(R):5'- CCCACTACTTTATCTCAGCTAAATG -3'

Sequencing Primer
(F):5'- GCAACATTCAAAGGAGATGGTCTTCC -3'
(R):5'- TGGCAAAATAAACAAAGACCATCTTC -3'

Posted On

2014-09-18